Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

6533b827fe1ef96bd12870e5

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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Frans W. Verheijen Robert M. Verdijk Leontine Van Unen Ramanujan S. Hegde Henriette Ter Heide Annette F. Baas Herma C. Van Der Linde Aida M. Bertoli-avella David Hassel Marja W. Wessels Judith M.a. Verhagen Robert M.w. Hofstra Peter G. J. Nikkels Marjon Van Slegtenhorst Maryann H. Kivlen Tjakko J. Van Ham Lennie Van Osch-gevers Johanna C. Herkert Ingrid M.b.h. Van De Laar Marianne Hoogeveen-westerveld Peter M. Van Hasselt Myrthe Van Den Born

subject

0301 basic medicine Lysine-tRNA Ligase Male Pathology Magnetic Resonance Spectroscopy Medizin membrane proteins 030204 cardiovascular system & hematology Mitochondrion Deafness medicine.disease_cause Compound heterozygosity Corrections Leukoencephalopathy Myelin 0302 clinical medicine Cytosol Leukoencephalopathies 030212 general & internal medicine Ovarian Diseases Transfer RNA Aminoacylation Child Zebrafish MUTATION Exome sequencing 10012 Mutation Brain Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General Medicine Middle Aged Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance Imaging Mitochondria Protein Transport endoplasmic reticulum medicine.anatomical_structure Child Preschool Transfer RNA ComputingMethodologies_DOCUMENTANDTEXTPROCESSING /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological Assay Female WRB Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adult cardiomyopathies medicine.medical_specialty Mitochondrial disease Aminoacylation Muscle disorder Biology Article MEDIATES INSERTION Amino Acyl-tRNA Synthetases 03 medical and health sciences SDG 3 - Good Health and Well-being medicine Animals Point Mutation Humans Amino Acid Sequence Allele Alleles COMPLEX Genetic heterogeneity business.industry Arsenite Transporting ATPases Leukodystrophy Genetic Variation 10090 Original Articles Zebrafish Proteins biology.organism_classification DILATED CARDIOMYOPATHY medicine.disease zebrafish GENE Molecular biology Disease Models Animal 030104 developmental biology Membrane protein [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics 10084 Neurology (clinical)Transfer RNA Aminoacylation MEMBRANE business Sequence Alignment 030217 neurology & neurosurgery exome

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Supplemental Digital Content is available in the text.

year	journal	country	edition	language
2019-03-12	Neurology

10.1212/wnl.0000000000007098 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062888821&origin=inward

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